Plexiform Neurofibromas

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Plexiform neurofibromas are a common complication of neurofibromatosis. These predominantly inherited tumors can occur anywhere in the body, including the head and neck, extremities, areas around the spine and deep in the body where they may affect organs.

Although these tumors tend to grow slowly, they may grow to an enormous size and can cause serious disfigurement, brain dysfunction, or impingement on other organs. They may also cause pain. These types of congenital lesions occur in up to 60 percent of patients with neurofibromatosis. However, only a minority of these patients is symptomatic and requires treatment.

Diagnosing Plexiform Neurofibromas

Although diagnosis of these lesions is usually possible by examination of the child, the full extent of the lesion is best seen by MRI scan. MRI scans may show these lesions to be much more extensive than previously thought. For those patients with tumors around the spine, the lesions may be extremely extensive.

Treating Plexiform Neurofibromas

Until recently, the only known effective treatment for plexiform neurofibromas has been surgery. Approximately 75 percent of patients who undergo a complete removal of the tumor without causing significant neurologic impairment or dysfunction are cured.

Children's National and other sites around the country are developing new therapies for patients whose tumors can only be partly removed. Most of these treatments are biologically based and designed to treat the genetic foundations of the tumor.

Children's National Health System is a member of the Department of Defense Neurofibromatosis Clinical Trials Consortium, of which Roger Packer, MD, acts as group chair. Children's National Health System completed a trial evaluating a new biologic agent, Pirfenidone, and is currently evaluating the efficacy of another biologic agent, Rapamycin, (through the Department of Defense Consortium), which is designed to inhibit the proliferation of plexiform neurofibromas.

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The Gilbert Family Neurofibromatosis Institute, one of the largest neurofibromatosis programs in the world, leads the medical field in diagnosis, evaluation, and treatment of children and adults with all the conditions that relate to this disorder.

Roger Packer's Story

Roger J. Packer, MD, Senior Vice President, Center for Neuroscience and Behavioral Medicine, has been a key figure in the national movement in innovation and care of children with brain tumors, where he says research is “accelerating discovery” in the field. That has been magnified in the past five to seven years, he says, where there have been dramatic advances in the understanding of the biology of these tumors. Still, Dr. Packer himself is never satisfied, because children are still stricken with deadly brain tumors, and there is a need for improved treatment, with fewer side-effects.